Nicolas Dell'oca
Montevideo, MO, Uruguay
Last Updated: 09/26/2026
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Found 10 publications
Implementation of a medical genomics program for rare diseases in Uruguay.
Journal: Orphanet journal of rare diseases
Published: February 26, 2026
Sitosterolemia in Iberoamerican countries: 16 new cases and phenotype genotype analysis.
Journal: Journal of clinical lipidology
Published: April 24, 2025
Two mutations in the SBDS gene reveal a diagnosis of Shwachman-Diamond syndrome in a patient with atypical symptoms.
Journal: Cold Spring Harbor molecular case studies
Published: July 28, 2022
Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report.
Journal: BMC pediatrics
Published: January 01, 2022
Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease.
Journal: Human genomics
Published: March 08, 2021
Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica.
Journal: Arteriosclerosis, thrombosis, and vascular biology
Published: August 08, 2020
Gene Silencing in the Liver Fluke Fasciola hepatica: RNA Interference.
Journal: Methods in molecular biology (Clifton, N.J.)
Published: May 14, 2020
Genomes of Fasciola hepatica from the Americas Reveal Colonization with Neorickettsia Endobacteria Related to the Agents of Potomac Horse and Human Sennetsu Fevers.
Journal: PLoS genetics
Published: June 09, 2016
The miRnome of Fasciola hepatica juveniles endorses the existence of a reduced set of highly divergent micro RNAs in parasitic flatworms.
Journal: International journal for parasitology
Published: May 22, 2015
RNA interference in Fasciola hepatica newly excysted juveniles: long dsRNA induces more persistent silencing than siRNA.
Journal: Molecular and biochemical parasitology
Published: March 01, 2014
Showing 1-10 of 10
Last Updated: 09/26/2026